About

James P. Guevara, MD, MPH, is a Professor of Pediatrics (General Pediatrics) at the Children's Hospital of Philadelphia and an Attending Physician there. He is also a Senior Fellow at the Leonard Davis Institute of Health Economics, a Senior Scholar at the Center for Clinical Epidemiology and Biostatistics (CCEB), and a Senior Fellow at the Center for Public Health Initiatives, all within the University of Pennsylvania. Dr. Guevara's research expertise includes developmental and behavioral disabilities, systematic reviews and meta-analyses, randomized controlled trials, and health disparities. His clinical expertise focuses on general and behavioral pediatrics. He holds a B.S. in Zoology from the University of California, Davis, an M.C.S. in Theology from New College Berkeley, an M.D. from Northwestern University, and an M.P.H. in Health Services from the University of Washington. His work emphasizes reducing disparities in early intervention services, promoting mental health screening, and improving health outcomes for underserved pediatric populations.

Research topics

• Medicine
• Family medicine
• Psychiatry
• Psychology
• Pediatrics
• Political Science
• Internal medicine
• Environmental health
• Developmental psychology
• Pedagogy
• Nursing

Selected publications

• Family Navigation to Reduce Disparities in Early Intervention Services: A Randomized Controlled Trial

  PEDIATRICS · 2026-03-09 · 1 citations

  article1st authorCorresponding

  OBJECTIVE: Disparities in early intervention (EI) use are well documented. We sought to determine the effects of family navigation (FN) on EI services use and child development among low-income, racially diverse children with suspected developmental delays. METHODS: We conducted a randomized controlled trial at 6 pediatric practices in a large urban community. Children who were aged younger than 30 months, had a gestational age of more than 35 weeks, had parents who spoke English or Spanish, and were referred to Part C EI were eligible. Children were randomized to FN or usual care and followed for 12 months. The main outcome measures were multidisciplinary evaluation (MDE) and EI service initiation and duration obtained from county EI program administrative files and Bayley-3 developmental scores. We examined differences among groups using intention-to-treat logistic and Cox regression models. RESULTS: We randomized 358 eligible children and followed 305 (85%) for 12 months. Children were predominantly Black with family incomes of less than $55 000. Overall, 257 (72%) completed an MDE, and 195 (54%) initiated services. Children who received FN had greater odds of MDE completion (adjusted odds ratio, 2.1; 95% CI, 1.2-3.5) and greater EI service initiation (64.4% vs 54.7%; P = .02) than children who received usual care. The average duration of EI services and Bayley-3 scores did not differ among groups. CONCLUSIONS: We found that an FN program improved EI referral completion and services initiation but not EI duration or child development among a population of predominantly low-income urban Black children. Implementation of FN programs in similar minoritized communities may reduce disparities in access to EI services.

  PublisherDOI

• Dynamic Duo: Managing Mentor-Mentee Relationships for High-Quality Publications

  Academic Pediatrics · 2026-02-06

  article
  PublisherDOI

• Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism

  Cell Genomics · 2026-03-09 · 2 citations

  articleOpen access

  Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267 individuals from 63 autism spectrum disorder (ASD) families and generated an integrated call set combining long- and short-read data. LR-WGS increased detection of gene-disrupting SVs and TRs by 33% and 38%, respectively, and enabled identification of novel exonic de novo germline and somatic SVs. We observed complex SV patterns, including a class of nested duplication-deletion events. By joint analysis of phased genetic variation and DNA methylation, we identified deletions of imprinted genes and demonstrated the effect of intermediate TR expansions (35-54 CGG) on the methylation of FMR1 promoter. Rare SVs, TRs, and damaging SNVs together accounted for 7.4% (95% confidence interval [CI], 2.7%-17%) of the heritability of ASD. These findings demonstrate how LR-WGS can resolve complex genetic variation and its functional consequences and regulatory effects in a single assay.

  PublisherDOI

• Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

  UNC Libraries · 2025-04-22

  articleOpen access
  PublisherDOI

• Long-Read Genome Sequencing Improves Detection and Functional Interpretation of Structural and Repeat Variants in Autism

  medRxiv · 2025-07-23 · 3 citations

  preprintOpen access

  Long–read whole genome sequencing (LR–WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR–WGS on 267 individuals from 63 ASD families and generated an integrated call set combining long– and short–read data. LR–WGS increased detection of gene–disrupting SVs and TRs by 33% and 38%, respectively, and enabled identification of novel exonic de novo germline and somatic SVs. We observed complex SV patterns, including a class of nested duplication–deletion events. By joint analysis of phased genetic variation and DNA methylation, we identified deletions of imprinted genes, and demonstrated the effect of intermediate TR expansions (35–54 CGG) on the methylation of FMR1 promoter. Rare SVs, TRs, and damaging SNVs together accounted for 7.4% (95% CI: 2.7–17%) of the heritability of ASD. These findings demonstrate how LR–WGS can resolve complex genetic variation and its functional consequences and regulatory effects in a single assay.

  PublisherOA PDFDOI

• Promoting Optimal Development: Screening for Mental Health, Emotional, and Behavioral Problems: Clinical Report

  PEDIATRICS · 2025-08-25 · 10 citations

  articleOpen access

  Rates of mental health, emotional, and behavioral (MEB) problems in the United States continue to rise, with current estimates of 13% to 20% of children having an MEB disorder and an additional 19% with problems causing impairment or distress that do not meet diagnostic criteria for a specific disorder. This clinical report incorporates and expands on recommendations from the 2019 American Academy of Pediatrics policy statement "Mental Health Competencies for Pediatric Practice" as well as "Recommendations for Preventive Pediatric Health Care." It addresses the rising MEB needs of youth since the previous clinical report, "Promoting Optimal Development: Screening for Behavioral and Emotional Problems," was published in 2015. This report outlines specific guidance for MEB screening, identification, and care of children in pediatric primary care. Screening, as part of regular health supervision visits and surveillance, begins within the first month of life to identify postpartum depression in caregivers. Child-focused screening for MEB problems begins at 6 months of age and continues at 12-, 24-, and 36-month health supervision visits, alternating with recommended developmental and autism spectrum disorder screenings at every visit in the Bright Futures Periodicity schedule and additionally when clinically indicated. After age 3, MEB screening continues annually. This report also 1) reviews updated information on prevalence of MEB problems; 2) articulates the current state of detection of these problems in pediatric primary care; 3) addresses how to manage a positive screen; 4) describes barriers to screening, including special population needs, and potential models to address those barriers; and 5) discusses potential changes at a practice and systems level that facilitate successful MEB screening.

  PublisherOA PDFDOI

• 360. Machine Learning Models of Rare Disorders Reveal Distinct Relationships Between Molecular Pathways, Cognitive Phenotypes and Health Traits

  Biological Psychiatry · 2025-04-09

  article1st authorCorresponding
  PublisherDOI

• A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

  UNC Libraries · 2025-04-22

  articleOpen access
  PublisherDOI

• 73. Integration of Deep Neurocognitive Data Into Predictive Models Reveals How Rare and Common Variants Influence Dimensional Measures of Mental Health

  Biological Psychiatry · 2025-04-09

  article
  PublisherDOI

• A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits

  medRxiv · 2025-07-15 · 6 citations

  preprintOpen access

  Abstract Rare copy number variants (CNVs) are a key component of the genetic basis of psychiatric conditions, but have not been well characterized for most. We conducted a genome-wide CNV analysis across six diagnostic categories (N = 574,965): autism (ASD), ADHD, bipolar disorder (BD), major depressive disorder (MDD), PTSD, and schizophrenia (SCZ). We identified 35 genome-wide significant associations at 18 loci, including novel associations in SCZ ( SMYD3, USP7 - HAPSTR1 ) and in the combined cross-disorder analysis ( ASTN2 ). Rare CNVs accounted for 1–3% of heritability across diagnoses. In ASD, associations were uniformly positive, consistent with autism having diverse etiologies and clinical presentations. By contrast, CNVs showed a dose-dependent relationship for other diagnoses, including SCZ and PTSD, with reciprocal deletions and duplications having inversely correlated effects and distinct genotype-phenotype relationships. Our findings suggest that genes have effects that are both dose-dependent and pleiotropic, such that a positive influence on one dimension of psychopathology may be accompanied by positive or negative effects on others.

  PublisherOA PDFDOI

Recent grants

• NIH Grant R18DD000345

  NIH · $1.3M · 2011

• NIH Grant K23MH065696

  NIH · $894k · 2008

Frequent coauthors

• Stephen W. Scherer

  SickKids Foundation

  61 shared

• Alexander G. Fiks

  Children's Hospital of Philadelphia

  48 shared

• Jonathan Sebat

  44 shared

• Anne S. Bassett

  Centre for Addiction and Mental Health

  41 shared

• Robert S. Gallagher

  University of Pennsylvania

  40 shared

• Oanh Hong

  40 shared

• Ruben C. Gur

  Lifespan

  40 shared

• Raquel E. Gur

  Children's Hospital of Philadelphia

  40 shared

Education

• MPH, Health Services

  University of Washington School of Public Health

  1999

• MD

  Northwestern University - Chicago

  1990